Identification of a novel FBN1 gene mutation in a patient with ectopia lentis

被引:0
|
作者
Szalai, Renata [1 ]
Bene, Judit [1 ]
Zsigmond, Anna [1 ]
Galimurka, Krisztina [1 ]
Hadzsiev, Kinga [1 ]
机构
[1] Univ Pecs, Dept Med Genet, Pecs, Hungary
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP06.036
引用
收藏
页码:992 / 992
页数:1
相关论文
共 50 条
  • [31] Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome
    YOUNG-HWA SONG
    GU-HWAN KIM
    HAN-WOOK YOO
    JUNE-BUM KIM
    Journal of Genetics, 2012, 91 : 233 - 235
  • [32] Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome
    Micheal, Shazia
    Khan, Muhammad Imran
    Akhtar, Farah
    Weiss, Marjan M.
    Islam, Farah
    Ali, Mehmood
    Qamar, Raheel
    Maugeri, Alessandra
    den Hollander, Anneke I.
    MOLECULAR VISION, 2012, 18 (199): : 1918 - 1926
  • [33] A NOVEL MUTATION IN THE FIBRILLIN GENE (FBN1) IN FAMILIAL ARACHNODACTYLY
    HAYWARD, C
    PORTEOUS, MEM
    BROCK, DJH
    MOLECULAR AND CELLULAR PROBES, 1994, 8 (04) : 325 - 327
  • [34] IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES
    HAYWARD, C
    PORTEOUS, MEM
    BROCK, DJH
    HUMAN MUTATION, 1994, 3 (02) : 159 - 162
  • [35] Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome
    Song, Young-Hwa
    Kim, Gu-Hwan
    Yoo, Han-Wook
    Kim, June-Bum
    JOURNAL OF GENETICS, 2012, 91 (02) : 233 - 235
  • [36] A Genotype-Phenotype Comparison of ADAMTSL4 and FBN1 in Isolated Ectopia Lentis
    Chandra, Aman
    Aragon-Martin, Jose A.
    Hughes, Kathryn
    Gati, Sabiha
    Reddy, M. Ashwin
    Deshpande, Charu
    Cormack, Graham
    Child, Anne H.
    Charteris, David G.
    Arno, Gavin
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2012, 53 (08) : 4889 - 4896
  • [37] Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis
    Zhou, Yijing
    Guo, Dongwei
    Cao, Qianzhong
    Zhang, Xinyu
    Jin, Guangming
    Zheng, Danying
    MOLECULAR MEDICINE REPORTS, 2021, 23 (04)
  • [38] A NOVEL MUTATION OF THE FIBRILLIN GENE CAUSING ECTOPIA LENTIS
    LONNQVIST, L
    CHILD, A
    KAINULAINEN, K
    DAVIDSON, R
    PUHAKKA, L
    PELTONEN, L
    GENOMICS, 1994, 19 (03) : 573 - 576
  • [39] The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus
    Li, Dan
    Yu, Jie
    Gu, Feng
    Pang, Xiuqin
    Ma, Xixin
    Li, Rong
    Liu, Ningpu
    Ma, Xu
    GENETIC TESTING, 2008, 12 (02): : 325 - 330
  • [40] A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
    Torrado, Mario
    Maneiro, Emilia
    Trujillo-Quintero, Juan Pablo
    Evangelista, Arturo
    Mikhailov, Alexander T.
    Monserrat, Lorenzo
    BIOMED RESEARCH INTERNATIONAL, 2018, 2018